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rs28940296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28940296(G;T)
Make rs28940296(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11992584
GeneMFN2
is asnp
is mentioned by
dbSNPrs28940296
ebirs28940296
HLIrs28940296
Exacrs28940296
Varsomers28940296
Maprs28940296
PheGenIrs28940296
hapmaprs28940296
1000 genomesrs28940296
hgdprs28940296
ensemblrs28940296
gopubmedrs28940296
geneviewrs28940296
scholarrs28940296
googlers28940296
pharmgkbrs28940296
gwascentralrs28940296
openSNPrs28940296
23andMers28940296
23andMe allrs28940296
SNP Nexus

SNPshotrs28940296
SNPdbers28940296
MSV3drs28940296
GWAS Ctlgrs28940296
Max Magnitude0
OMIM608507
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant0006
Relatedalso
Neighborrs28940293
Distance22


ClinVar
Risk rs28940296(A;A) rs28940296(T;T)
Alt rs28940296(A;A) rs28940296(T;T)
Reference Rs28940296(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2
Reversed 0
HGVS NC_000001.10:g.12052641G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002361.3,